Plasschaert E, Descheemaeker MJ, Van Eylen L, et al. Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet 2015; 168B:72. Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children ...
In childhood, the diagnosis often seems to be difficul t because the symptoms are age dependent. Patients and methods. A total of 28 NF 1 children and adolescents aged from 6 months to 17 years were investigated over 7 years. Distinct symptoms were documented for the NIH criteria ...
specifically nausea, sometimes vomiting, and diarrhea. We provided thorough counseling about diet and management, and in an anticipatory way, we were ready to treat any nausea or [gastrointestinal symptoms] that got in the way of taking this medicine. ...
The FDA approval of Gomekli is based on results from the Phase 2b ReNeu trial, which enrolled 114 patients with NF1-PN ≥2 years of age (58 adults and 56 pediatric patients).10 Gomekli met the primary endpoint of confirmed objective response rate (ORR), as assessed by blinded independent...
Key signs and symptoms of NF1 Café-au-lait spots and intertriginous freckling (Figure 53.1A) Café-au-lait spots are flat, pigmented macules, and are gener- ally the first cutaneous manifestation of NF1. Often present at birth, they become apparent during the first few years of life. ...
However, a slightly negative correlation was observed between paternal age and the coexistence of NF1 symptoms in familial cases (p<0.05). We did not find strong evidence for the effect of parental age on the clinical severity of NF1. 展开 ...
4, 5, 7 Therefore, the suspicion of JMML in a patient with NF1 who develops JXGs should be directed by clinical symptoms and physical exploration, and not by the mere finding itself.11 Download: Download high-res image (176KB) Download: Download full-size image Figure 2. Juvenile xantho...
in expression of the clinical symptoms has been detected (Mautner et al.2010). Hence, the phenotype associated withNF1microdeletions is likely to be influenced to a certain degree by the genetic background (e.g. the expression level of non-deleted genes), as well as by environmental factors...
Most of the clinical symptoms of the disease are age dependent and considerable phenotypic variability has been described both between and within families.3,4 This genetic disorder is caused by mutations in the NF1 gene, one of the largest human genes, composed of 60 exons and spanning more th...
Other manifestations include neurological symptoms, skeletal dysplasias and visceral injuries. The pathogenic gene for NF1 is located on the autosome 17q11.2. The gene encoding NF1 was defined in 1991 [3]. In the case of the disease, this chromosomal locus is deleted so that the patient ...